A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053664



Internal ID19142883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37640544..38037452hg38UCSC Ensembl
Innerchr12:38034346..38431254hg19UCSC Ensembl
Innerchr12:36320613..36717521hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38396909
hg19396909
hg18396909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1470n100
Supporting Variantsnssv3522957, nssv3522956
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053664
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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